Výsledky vyhledávání - Marco Savarese

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  1. 1
    Increasing Role of Titin Mutations in Neuromuscular Disorders

    Increasing Role of Titin Mutations in Neuromuscular Disorders Autor Marco Savarese, J. Sarparanta, Anna Vihola, Bjarne Udd, Peter Hackman

    Vydáno 2016
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  2. 2
    The complexity of titin splicing pattern in human adult skeletal muscles

    The complexity of titin splicing pattern in human adult skeletal muscles Autor Marco Savarese, Per Harald Jonson, Sanna Huovinen, Lars Paulín, Petri Auvinen, Bjarne Udd, Peter Hackman

    Vydáno 2018
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  3. 3
    Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast

    Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast Autor Dario Acampora, Daniela Omodei, Giuseppe Petrosino, Arcomaria Garofalo, Marco Savarese, Vincenzo Nigro, Luca Giovanni Di Giovannantonio, Vincenzo Mercadante, Antonio Simeone

    Vydáno 2016
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  4. 4
    Myotilin gene duplication causing late‐onset myotilinopathy

    Myotilin gene duplication causing late‐onset myotilinopathy Autor Marco Spinazzi, Marco Savarese, Franck Letournel, Lydia Sagath, Florence Manero, Agnès Guichet, Alexander Hoischen, Corinne Métay, Julien Gouju, Bjarne Udd

    Vydáno 2025
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  5. 5
    MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

    MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples Autor Marco Savarese, Giuseppina Di Fruscio, Margherita Mutarelli, Annalaura Torella, Francesca Magri, Filippo M. Santorelli, Giacomo P. Comi, Claudio Bruno, Vincenzo Nigro

    Vydáno 2014
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  6. 6
    Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway

    Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway Autor Giuseppina Di Fruscio, Angela Schulz, Rossella De Cegli, Marco Savarese, Margherita Mutarelli, Giancarlo Parenti, Sandro Banfi, Thomas Braulke, Vincenzo Nigro, Andrea Ballabio

    Vydáno 2015
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  7. 7
    The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

    The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene Autor Annalaura Torella, Mariateresa Zanobio, Roberta Zeuli, Francesca Del Vecchio Blanco, Marco Savarese, Teresa Giugliano, Arcomaria Garofalo, Giulio Piluso, Luisa Politano, Vincenzo Nigro

    Vydáno 2020
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  8. 8
    GRASP65 and GRASP55 Sequentially Promote the Transport of C-terminal Valine-bearing Cargos to and through the Golgi Complex

    GRASP65 and GRASP55 Sequentially Promote the Transport of C-terminal Valine-bearing Cargos to and through the Golgi Complex Autor Giovanni D’Angelo, Libera Prencipe, Luisa Iodice, Galina V. Beznoussenko, Marco Savarese, Pierfrancesco Marra, Giuseppe Di Tullio, Gianluca Martire, Maria Antonietta De Matteis, Stefano Bonatti

    Vydáno 2009
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  9. 9
    Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

    Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F Autor Annalaura Torella, Francesco Mari, Margherita Mutarelli, Enrico Peterle, Francesca Del Vecchio Blanco, Rossella Rispoli, Marco Savarese, Arcomaria Garofalo, Giulio Piluso, Lucia Morandi, Giulia Ricci, Gabriele Siciliano, C. Angelini, Vincenzo Nigro

    Vydáno 2013
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  10. 10
    Mutation update for the <i>ACTN2</i> gene

    Mutation update for the <i>ACTN2</i> gene Autor Johanna Ranta‐aho, Montse Olivé, Marie Vandroux, Giorgia Roticiani, Cristina Domínguez‐González, Mridul Johari, Annalaura Torella, Johann Böhm, Janina Turon, Vincenzo Nigro, Peter Hackman, Jocelyn Laporte, Bjarne Udd, Marco Savarese

    Vydáno 2022
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  11. 11
    Actininopathy: A new muscular dystrophy caused by <i>ACTN2</i> dominant mutations

    Actininopathy: A new muscular dystrophy caused by <i>ACTN2</i> dominant mutations Autor Marco Savarese, Johanna Palmio, Juan José Poza, Jan Weinberg, Montse Olivé, Ana María Cobo, Anna Vihola, Per Harald Jonson, J. Sarparanta, F. García-Bragado, Jon Andoni Urtizberea, Peter Hackman, Bjarne Udd

    Vydáno 2019
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  12. 12
    Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders

    Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders Autor Giulio Piluso, Manuela Dionisi, Francesca Del Vecchio Blanco, Annalaura Torella, Stefania Aurino, Marco Savarese, Teresa Giugliano, Enrico Bertini, Antonio Terracciano, Mariz Vainzof, Chiara Criscuolo, Luisa Politano, Carlo Casali, Filippo M. Santorelli, Vincenzo Nigro

    Vydáno 2011
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  13. 13
    Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

    Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations Autor Marco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, Lucia Ruggiero, Sandra Janssens, Jan De Bleecker, Marc Delpech, Olimpia Musumeci, António Toscano, C. Angelini, Sabrina Sacconi, Lucio Santoro, Enzo Ricci, Kathleen Claes, Luisa Politano, Vincenzo Nigro

    Vydáno 2015
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  14. 14
    OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development

    OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development Autor Ali Oghabian, Per Harald Jonson, Swethaa Natraj Gayathri, Mridul Johari, Ella Nippala, David Gómez‐Andrés, Francina Munell, Jessica Camacho, Maria Angeles Sanchez Duran, Juha Sinisalo, Heli Tolppanen, Johanna Tolva, Peter Hackman, Marco Savarese, Bjarne Udd

    Vydáno 2025
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  15. 15
    Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

    Expanding the importance of HMERF titinopathy: new mutations and clinical aspects Autor Johanna Palmio, Sarah Léonard-Louis, Sabrina Sacconi, Marco Savarese, Sini Penttilä, A. Semmler, Wolfram Kreß, Tahseen Mozaffar, Timothy Y. Y. Lai, Tanya Stojkovic, Andrés Berardo, Ricardo Reisin, Shahram Attarian, Andoni Urtizberea, Ana María Cobo, Lorenzo Maggi, С. В. Курбатов, S. Nikitin, José C. Milisenda, Farzad Fatehi, Monika Raimondi, Fernando Silveira, Peter Hackman, Kristl G. Claeys, Bjarne Udd

    Vydáno 2019
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  16. 16
    TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

    TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations Autor Youjin Lee, Per Harald Jonson, J. Sarparanta, Johanna Palmio, Mohona Sarkar, Anna Vihola, Anni Evilä, Tiina Suominen, Sini Penttilä, Marco Savarese, Mridul Johari, Marie-Christine Minot, David Hilton‐Jones, Paul Maddison, Patrick F. Chinnery, Jens Reimann, Cornelia Kornblum, Torsten Kraya, Stephan Zierz, Carolyn M. Sue, Hans H. Goebel, Asim Azfer, Stuart H. Ralston, Peter Hackman, Robert C. Bucelli, J. Paul Taylor, Conrad C. Weihl, Bjarne Udd

    Vydáno 2018
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  17. 17
    Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

    Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions Autor Lydia Sagath, Kirsi Kiiski, K. Satyam Naidu, Krutik Patel, Per Harald Jonson, Milla Laarne, Djurdja Djordjevic, Grace Yoon, Anna LaGroon, Curtis Rogers, Maureen Kelly Galindo, Katalin Scherer, Erdmute Kunstmann, Erkan Koparir, D D Ho, Mark R. Davis, Purwa Joshi, A. Zygmunt, Rotem Orbach, Sandra Donkervoort, C. Bönnemann, Marco Savarese, Andoni Echaniz‐Laguna, Valérie Biancalana, Casie A. Genetti, Susan T. Iannaccone, Alan H. Beggs, Carina Wallgren‐Pettersson, Franclo Henning, Katarina Pelin, Vilma‐Lotta Lehtokari

    Vydáno 2025
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  18. 18
    MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

    MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients Autor Chiara Fiorillo, Guja Astrea, Marco Savarese, Denise Cassandrini, Giacomo Brisca, Federica Trucco, Marina Pedemonte, Rosanna Trovato, Lucia Ruggiero, Liliana Vercelli, Adele D’Amico, Giorgio Tasca, Marika Pane, Francesco Mari, Luca Bello, Paolo Broda, Olimpia Musumeci, Carmelo Rodolico, Sonia Messina, Gian Luca Vita, Maria Sframeli, Sara Gibertini, Lucia Morandi, Marina Mora, Lorenzo Maggi, Antonio Petrucci, Roberto Massa, Marina Grandis, Arianna Toscano, Elena Pegoraro, Eugenio Mercuri, Enrico Bertini, Tiziana Mongini, Lucio Santoro, Vincenzo Nigro, Carlo Minetti, Filippo M. Santorelli, Claudio Bruno

    Vydáno 2016
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  19. 19
    Recurrent <i>TTN</i> metatranscript‐only c.39974–11T&gt;G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

    Recurrent <i>TTN</i> metatranscript‐only c.39974–11T&gt;G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy Autor Samantha J. Bryen, Lisa Ewans, Jason Pinner, Suzanna C. MacLennan, Sandra Donkervoort, Diana Castro, Ana Töpf, Gina O’Grady, Beryl B. Cummings, Katherine R. Chao, Ben Weisburd, Laurent C. Francioli, Fathimath Faiz, Adam Bournazos, Ying Hu, Carla Grosmann, Denise Malicki, Helen Doyle, Nanna Witting, John Vissing, Kristl G. Claeys, Kathryn Urankar, Ana Beleza‐Meireles, Júlia Baptista, Sian Ellard, Marco Savarese, Mridul Johari, Anna Vihola, Bjarne Udd, Anirban Majumdar, Volker Straub, Carsten G. Bönnemann, Daniel G. MacArthur, Mark R. Davis, Sandra T. Cooper

    Vydáno 2019
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  20. 20
    Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

    Interpreting Genetic Variants in Titin in Patients With Muscle Disorders Autor Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Lucia Ruggiero, Luca Bello, Francesca Magri, Teresa Giugliano, Annalaura Torella, Anni Evilä, Giuseppina Di Fruscio, Olivier Vanakker, Sara Gibertini, Liliana Vercelli, Alessandra Ruggieri, Carlo Antozzi, H. Luque, Sandra Janssens, Maria Barbara Pasanisi, Chiara Fiorillo, Monika Raimondi, Manuela Ergoli, Luisa Politano, Claudio Bruno, Anna Rubegni, Marika Pane, Filippo M. Santorelli, Carlo Minetti, C. Angelini, Jan De Bleecker, Maurizio Moggio, Tiziana Mongini, Giacomo P. Comi, Lucio Santoro, Eugenio Mercuri, Elena Pegoraro, Marina Mora, Peter Hackman, Bjarne Udd, Vincenzo Nigro

    Vydáno 2018
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